Myotonia congenita, dominant (Q89049): Difference between revisions
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A miotonia congênita autossômica dominante (doença de Thomsen) é uma doença muscular não distrófica causada por mutação no gene que codifica o canal 1 de cloreto do músculo esquelético (CLCN1). É clinicamente caracterizado por rigidez muscular e uma incapacidade do músculo para relaxar após a contração voluntária. | |||
| description / en | description / en | ||
Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. | |||
Revision as of 15:29, 15 August 2026
Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction.
| Language | Label | Description | Also known as |
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| default for all languages | ID_370025964 |
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| English | Myotonia congenita, dominant |
Autosomal dominant myotonia congenita (Thomsen disease) is a non-dystrophic muscle disorder caused by mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1). It is clinically characterised by muscle stiffness and an inability of the muscle to relax after voluntary contraction. |
